Study of mutations in Jordanian patients with haemophilia A: Identification of five novel mutations

Haemophilia

Volumn 16, Issue 1, 2010, Pages 136-142

  Awidi, A ^a   Ramahi, M ^b   ALhattab, D ^a   Mefleh, R ^a   Dweiri, M ^b   Bsoul, N ^a   Magablah, A ^a   Arafat, E ^b   Barqawi, M ^b   Bishtawi, M ^b   Haddadeen, E ^c   Falah, M ^b   Tarawneh, B ^a   Swaidan, S ^d   Fauori, S ^b  

^a UNIVERSITY OF JORDAN   (Jordan)

^b Ministry of Health   (Jordan)

^c Royal Medical Services   (Jordan)

^d JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

Author keywords

Factor VIII; Haemophilia A; Mutations

Indexed keywords

ARGININE; ASPARTIC ACID; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR; GLUTAMIC ACID; GLYCINE; VALINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HEMOPHILIA A; HUMAN; INFANT; INTRON; JORDAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; BLOOD COAGULATION FACTOR INHIBITORS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FRAMESHIFT MUTATION; HEMOPHILIA A; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; JORDAN; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 73949083813     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2009.02081.x     Document Type: Article

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